Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
NM_000139.5
p.E237G
c.710A>G
NM_000139.5
p.I181L
c.541A>C
NM_000139.5
p.S115L
c.344C>T
NM_000139.5
p.V183L
c.547G>C
NM_000139.5
p.V183L
c.547G>T
NM_000139.5
p.G192*
c.574G>T
NM_000139.5
p.E27Q
c.79G>C
NM_000139.5
p.Q58insFs
c.173dupA
NM_000139.5
p.A105A
c.315C>T
NM_000139.5
p.K212_V213Splc
c.637-1G>A
NM_000139.5
p.M1R
c.2T>G
NM_000139.5
p.N6insFs
c.16dupA